Canonical Allele Identifier: CA419895491
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs2101092000
MyVariant Identifiers: chr1:g.116280891T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738270T>C , CM000663.2:g.115738270T>C GRCh38
NC_000001.10:g.116280891T>C , CM000663.1:g.116280891T>C GRCh37
NC_000001.9:g.116082414T>C NCBI36
NG_008802.1:g.35536A>G , LRG_404:g.35536A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.210A>G ENSP00000518226.1:p.Glu70=
ENST00000261448.6:c.486A>G MANE Select ENSP00000261448.5:p.Glu162=
ENST00000261448.5:c.486A>G ENSP00000261448.5:p.Glu162=
NM_001232.3:c.486A>G , LRG_404t1:c.486A>G NP_001223.2:p.Glu162=
NM_001232.4:c.486A>G MANE Select NP_001223.2:p.Glu162=
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Search 100 bp 3'